Canonical Allele Identifier: CA351192863

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237339060C>T , CM000664.2:g.237339060C>T	GRCh38
NC_000002.11:g.238247703C>T , CM000664.1:g.238247703C>T	GRCh37
NC_000002.10:g.237912442C>T	NCBI36
NG_008676.1:g.80148G>A , LRG_473:g.80148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1167G>A
ENST00000353578.9:c.7904G>A	ENSP00000315873.4:p.Gly2635Glu
ENST00000682957.1:c.525G>A
ENST00000684508.1:n.789G>A
ENST00000295550.9:c.8522G>A MANE Select	ENSP00000295550.4:p.Gly2841Glu
ENST00000295550.8:c.8522G>A	ENSP00000295550.4:p.Gly2841Glu
ENST00000347401.7:c.6698G>A	ENSP00000315609.4:p.Gly2233Glu
ENST00000353578.8:c.7904G>A	ENSP00000315873.4:p.Gly2635Glu
ENST00000409809.5:c.7904G>A	ENSP00000386844.1:p.Gly2635Glu
ENST00000468792.1:n.209G>A
ENST00000472056.5:c.6701G>A	ENSP00000418285.1:p.Gly2234Glu
ENST00000491769.1:n.4964G>A
NM_004369.3:c.8522G>A , LRG_473t1:c.8522G>A	NP_004360.2:p.Gly2841Glu
NM_057166.4:c.6701G>A	NP_476507.3:p.Gly2234Glu
NM_057167.3:c.7904G>A	NP_476508.2:p.Gly2635Glu
XM_005246065.1:c.7922G>A	XP_005246122.1:p.Gly2641Glu
XM_005246066.1:c.7301G>A	XP_005246123.1:p.Gly2434Glu
XM_006712253.1:c.8021G>A	XP_006712316.1:p.Gly2674Glu
XM_011510574.1:c.8519G>A	XP_011508876.1:p.Gly2840Glu
XM_011510575.1:c.6116G>A	XP_011508877.1:p.Gly2039Glu
XM_017003304.1:c.6116G>A	XP_016858793.1:p.Gly2039Glu
XM_024452684.1:c.7301G>A	XP_024308452.1:p.Gly2434Glu
NM_004369.4:c.8522G>A MANE Select	NP_004360.2:p.Gly2841Glu
NM_057166.5:c.6701G>A	NP_476507.3:p.Gly2234Glu
NM_057167.4:c.7904G>A	NP_476508.2:p.Gly2635Glu